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Spinal Muscular Atrophy - I, II, and III
Clinical Genetic Test
Help
offered by
Center for Genetics at Saint Francis
View lab's test page
LinkOut
GTR Test Accession: Help GTR000504099.6
CAP
INHERITED DISEASENERVOUS SYSTEM
Last updated in GTR: 2024-07-26
View version history
Last annual review date for the lab: 2024-07-30 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Drug Response; Mutation Confirmation; ...
Conditions (3): Help
Werdnig-Hoffmann disease; Kugelberg-Welander disease; Spinal muscular atrophy, type II
Genes (1): Help
SMN1 (5q13.2)
Methods (1): Help
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA)
Target population: Help
Individuals exhibiting symptoms consistent with Spinal Muscular Atrophy; muscle weakness …
Clinical validity: Help
Clinical Sensitivity: 95-98% Muscle weakness and atrophy due to a …
Clinical utility: Help
Establish or confirm diagnosis; Guidance for selecting a drug therapy and/or dose; Predictive risk information for patient and/or family members
Ordering Information
Offered by: Help
Center for Genetics at Saint Francis
View lab's website
View lab's test page
Test short name: Help
SMA
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
CPT codes: Help
**AMA CPT codes notice

Copyright: 2023 American Medical Association. All rights reserved.

Lab contact: Help
Lynne Whetsell, BS, MB(ASCP), Staff
[email protected]
918-502-3808
Tonya Jones, BS, CG(ASCP), MB(ASCP), Administrator
[email protected]
918-502-1730
How to Order: Help
1. Choose the desired test from the Test Directory.
2. Obtain information on the required specimen for the specific test from the Test Information page.
3. Fill out the necessary test requisition form and any other required forms from the Forms page.
4. Provide the required Billing information or make …
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Order URL
Test development: Help
Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
Informed consent required: Help
No
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Test Order Code, Contact policy, Test strategy
Conditions Help
Total conditions: 3
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
Applied Biosystems 3130 capillary electrophoresis
Applied Biosystems 3130 capillary electrophoresis
Clinical Information
Test purpose: Help
Diagnosis; Drug Response; Mutation Confirmation; Predictive; Risk Assessment
Clinical validity: Help
Clinical Sensitivity: 95-98% Muscle weakness and atrophy due to a loss of motor nerves in the spinal cord and brain stem. Onset of disease ranges from before birth to young adulthood. Weakness is almost always symmetric and progressive, leading to paralysis of the limbs and trunk- eventually resulting in death. … View more
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)

Guidance for selecting a drug therapy and/or dose
View citations (1)

Predictive risk information for patient and/or family members
View citations (1)

Target population: Help
Individuals exhibiting symptoms consistent with Spinal Muscular Atrophy; muscle weakness and atrophy due to a loss of motor nerves in the spinal cord and brain stem. Onset of disease ranges from before birth to young adulthood. Weakness is almost always symmetric and progressive, leading to paralysis of the limbs and … View more
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
NA

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
NA

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Not provided. NA
Research:
Is research allowed on the sample after clinical testing is complete? Help
NA
Recommended fields not provided:
Are family members with defined clinical status recruited to assess significance of VUS without charge?, Will the lab re-contact the ordering physician if variant interpretation changes?, Sample negative report, Sample positive report
Technical Information
Test Procedure: Help
Confirmation is performed on a new blood specimen (if submitted) and a separate DNA preparation using the same methodology.
Test Confirmation: Help
Confirmation is performed on a new blood specimen (if submitted) and a separate DNA preparation using the same methodology.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical sensitivity, specificity and accuracy greater than 99%; determined by in-house validations.
View citations (1)
Assay limitations: Help
Diagnostic errors can occur due to rare sequence variations. Single base pair substitutions, small deletions/duplications, regulatory region mutations, and deep intronic mutations will not be detected. This test is unable to determine chromosomal phase of SMN1 or SMN2 copies. Even if the variants associated with SMN1 duplication are detected, the … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
VUS:
Software used to interpret novel variations Help
NA

Laboratory's policy on reporting novel variations Help
NA
Recommended fields not provided:
Citations to support assay limitations, Description of internal test validation method, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.